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<meta name="keywords" content="C0235752, congenital abnormality, nevus flammeus, nevus simplex, port wine birthmark, port wine nevus, port wine stain, port wine stain of skin, port wine stain of the skin, port wine type hemangioma, port-wine birthmark, port-wine nevus, port-wine stain, port-wine stain of skin, port-wine stains, portwine nevus, pws - port-wine stain, salmon patch nevus, stain, port-wine, stains, port-wine, stork bite, unna's nevus, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=65911
|
||
ConceptID=C0235752
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Nevus flammeus</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65911</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0235752</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Nevus Flammeus; Port Wine Stain; Port-Wine Stain; Port-Wine Stains; Stain, Port-Wine; Stains, Port-Wine</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Port-wine stain of skin (416377005); PWS - Port-wine stain (416377005); Port-wine birthmark (416377005); Port-wine stain (416377005); Nevus flammeus (416377005); Port-wine nevus (416377005); Portwine nevus (416377005); Port wine stain of skin (416377005); Stork bite (254211001); Unna's nevus (254211001); Salmon patch nevus (254211001)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0001052">HP:0001052</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/163000" target="_blank">163000</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
||
</div>
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|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0340803[DISCUI]&test_type=Clinical" ref="ncbi_uid=90955">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0340803[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=90955">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=90955" target="_blank" href="/omim/163000">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=90955" ref="ncbi_uid=90955">V</a></span></span><span class="TLline"><a href="/medgen/90955" ref="tree=GTR&ncbi_uid=90955&link_uid=90955" title="View MedGen record for 'Capillary malformation'">Capillary malformation</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1371033" ref="tree=GTR&ncbi_uid=1371033&link_uid=1371033" title="View MedGen record for 'Angioma serpentinum'">Angioma serpentinum</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=83381" target="_blank" href="/omim/219250">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK581081/" ref="ncbi_uid=83381">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/83381" ref="tree=GTR&ncbi_uid=83381&link_uid=83381" title="View MedGen record for 'Congenital livedo reticularis'">Congenital livedo reticularis</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2931029[DISCUI]&test_type=Clinical" ref="ncbi_uid=419699">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=419699" target="_blank" href="/omim/163000">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=419699" ref="ncbi_uid=419699">V</a></span></span><span class="TLline"><a href="/medgen/419699" ref="tree=GTR&ncbi_uid=419699&link_uid=419699" title="View MedGen record for 'Familial multiple nevi flammei'">Familial multiple nevi flammei</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=82725" target="_blank" href="/omim/163050">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/82725" ref="tree=GTR&ncbi_uid=82725&link_uid=82725" title="View MedGen record for 'Nevus anemicus'">Nevus anemicus</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=65911" target="_blank" href="/omim/163000">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Nevus flammeus</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1369839" ref="tree=GTR&ncbi_uid=1369839&link_uid=1369839" title="View MedGen record for 'Nevus roseus'">Nevus roseus</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/871273" ref="tree=MeSH" title="MedGen record for Abnormality of the integument">Abnormality of the integument</a></span><ul><li><span class="TLline"><a href="/medgen/1845238" ref="tree=MeSH" title="MedGen record for Abnormality of the skin">Abnormality of the skin</a></span><ul><li><span class="TLline"><a href="/medgen/869110" ref="tree=MeSH" title="MedGen record for Abnormal skin morphology">Abnormal skin morphology</a></span><ul><li><span class="TLline"><a href="/medgen/208858" ref="tree=MeSH" title="MedGen record for Localized skin lesion">Localized skin lesion</a></span><ul><li><span class="TLline"><a href="/medgen/90955" ref="tree=MeSH" title="MedGen record for Capillary malformation">Capillary malformation</a></span><ul><li><span class="matched_ds">Nevus flammeus</span><ul><li><span class="TLline"><a href="/medgen/340225" ref="tree=MeSH" title="MedGen record for Naevus flammeus of the eyelid">Naevus flammeus of the eyelid</a></span></li><li><span class="TLline"><a href="/medgen/870384" ref="tree=MeSH" title="MedGen record for Nevus flammeus nuchae">Nevus flammeus nuchae</a></span></li><li><span class="TLline"><a href="/medgen/376454" ref="tree=MeSH" title="MedGen record for Nevus flammeus of the forehead">Nevus flammeus of the forehead</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=1222&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Nevus flammeus</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_2562"><div><strong>Beckwith-Wiedemann syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2562</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0004903</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Beckwith-Wiedemann syndrome (BWS) is a growth disorder variably characterized by macroglossia, hemihyperplasia, omphalocele, neonatal hypoglycemia, macrosomia, embryonal tumors (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma), visceromegaly, adrenocortical cytomegaly, kidney abnormalities (e.g., medullary dysplasia, nephrocalcinosis, and medullary sponge kidney), and ear creases / posterior helical ear pits. BWS is considered a clinical spectrum, in which affected individuals may have many or only one or two of the characteristic clinical features. Although most individuals with BWS show rapid growth in late fetal development and early childhood, growth rate usually slows by age seven to eight years. Adult heights are typically within the normal range. Hemihyperplasia (also known as lateralized overgrowth) is often appreciated at birth and may become more or less evident over time. Hemihyperplasia may affect segmental regions of the body or selected organs and tissues. Hemihyperplasia may be limited to one side of the body (ipsilateral) or involve opposite sides of the body (contralateral). Macroglossia is generally present at birth and can obstruct breathing or interfere with feeding in infants. Neonatal hypoglycemia occurs in approximately 50% of infants with BWS; most episodes are mild and transient. However, in some cases, persistent hypoglycemia due to hyperinsulinism may require consultation with an endocrinologist for therapeutic intervention. With respect to the increased risk for embryonal tumor development, the risk for Wilms tumor appears to be concentrated in the first seven years of life, whereas the risk for developing hepatoblastoma is concentrated in the first three to four years of life. Cognitive and neurobehavioral development is usually normal. After childhood, prognosis is generally favorable, although some adults experience issues requiring medical management (e.g., for renal or skeletal concerns).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2562">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_113103"><div><strong>Diastrophic dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>113103</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0220726</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diastrophic dysplasia (DTD) is characterized by limb shortening, normal-sized head, hitchhiker thumbs, spinal deformities (scoliosis, exaggerated lumbar lordosis, cervical kyphosis), and contractures of the large joints with deformities and early-onset osteoarthritis. Other typical findings are ulnar deviation of the fingers, gap between the first and second toes, and clubfoot. On occasion, the disease can be lethal at birth, but most affected individuals survive the neonatal period and develop physical limitations with normal intelligence.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/113103">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_99347"><div><strong>Mulibrey nanism syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99347</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0524582</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mulibrey nanism (MUL) is a rare autosomal recessive growth disorder with prenatal onset, including occasional progressive cardiomyopathy, characteristic facial features, failure of sexual maturation, insulin resistance with type 2 diabetes, and an increased risk for Wilms tumor (summary by Hamalainen et al., 2006).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/99347">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_208678"><div><strong>Bohring-Opitz syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>208678</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0796232</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bohring-Opitz syndrome (BOS) is characterized by distinctive facial features and posture, growth failure, variable but usually severe intellectual disability, and variable anomalies. The facial features may include microcephaly or trigonocephaly / prominent (but not fused) metopic ridge, hypotonic facies with full cheeks, synophrys, glabellar and eyelid nevus flammeus (simplex), prominent globes, widely set eyes, palate anomalies, and micrognathia. The BOS posture, which is most striking in early childhood and often becomes less apparent with age, is characterized by flexion at the elbows with ulnar deviation and flexion of the wrists and metacarpophalangeal joints. Feeding difficulties in early childhood, including cyclic vomiting, have a significant impact on overall health; feeding tends to improve with age. Seizures are common and typically responsive to standard epileptic medications. Minor cardiac anomalies and transient bradycardia and apnea may be present. Affected individuals may experience recurrent infections, which also tend to improve with age. Isolated case reports suggest that individuals with BOS are at greater risk for Wilms tumor than the general population, but large-scale epidemiologic studies have not been conducted.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/208678">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_339902"><div><strong>Cornelia de Lange syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339902</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1853099</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cornelia de Lange syndrome (CdLS) encompasses a spectrum of findings from mild to severe. Severe (classic) CdLS is characterized by distinctive facial features, growth restriction (prenatal onset; <5th centile throughout life), hypertrichosis, and upper-limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly (missing digits). Craniofacial features include synophrys, highly arched and/or thick eyebrows, long eyelashes, short nasal bridge with anteverted nares, small widely spaced teeth, and microcephaly. Individuals with a milder phenotype have less severe growth, cognitive, and limb involvement, but often have facial features consistent with CdLS. Across the CdLS spectrum IQ ranges from below 30 to 102 (mean: 53). Many individuals demonstrate autistic and self-destructive tendencies. Other frequent findings include cardiac septal defects, gastrointestinal dysfunction, hearing loss, myopia, and cryptorchidism or hypoplastic genitalia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/339902">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_344278"><div><strong>Frontoocular syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344278</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1854405</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344278">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_419699"><div><strong>Familial multiple nevi flammei</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419699</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2931029</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Capillary malformations (CMC) are a form of vascular malformation that are present from birth, tend to grow with the individual, do not regress spontaneously, and show normal rates of endothelial cell turnover. Capillary malformations are distinct from capillary hemangiomas (602089), which are highly proliferative lesions that appear shortly after birth and show rapid growth, slow involution, and endothelial hypercellularity (Spring and Bentz, 2005; Legiehn and Heran, 2006).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/419699">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_816342"><div><strong>Rienhoff syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816342</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3810012</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, and cervical spine malformation and/or instability), craniofacial features (hypertelorism, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816342">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863578"><div><strong>Intellectual disability, autosomal dominant 29</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863578</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4015141</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">SETBP1 haploinsufficiency disorder (SETBP1-HD) is characterized by hypotonia and mild motor developmental delay; intellectual abilities ranging from normal to severe disability; speech and language disorder; behavioral problems (most commonly attention/concentration deficits and hyperactivity, impulsivity), and refractive errors and strabismus. Typically children with SETBP1-HD whose intellect is in the normal or borderline range (IQ 80-90) were diagnosed following genetic testing for behavioral problems and/or severe speech and language disorders (respectively: the inability to produce sounds in words correctly, and deficits in the understanding and/or expression of words and sentences). To date, 47 individuals with SETBP1-HD have been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863578">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1641736"><div><strong>Autosomal dominant Robinow syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1641736</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551475</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal dominant Robinow syndrome (ADRS) is characterized by skeletal findings (short stature, mesomelic limb shortening predominantly of the upper limbs, and brachydactyly), genital abnormalities (in males: micropenis / webbed penis, hypoplastic scrotum, cryptorchidism; in females: hypoplastic clitoris and labia majora), dysmorphic facial features (widely spaced and prominent eyes, frontal bossing, anteverted nares, midface retrusion), dental abnormalities (including malocclusion, crowding, hypodontia, late eruption of permanent teeth), bilobed tongue, and occasional prenatal macrocephaly that persists postnatally. Less common findings include renal anomalies, radial head dislocation, vertebral abnormalities such as hemivertebrae and scoliosis, nail dysplasia, cardiac defects, cleft lip/palate, and (rarely) cognitive delay. When present, cardiac defects are a major cause of morbidity and mortality. A variant of Robinow syndrome, associated with osteosclerosis and caused by a heterozygous pathogenic variant in DVL1, is characterized by normal stature, persistent macrocephaly, increased bone mineral density with skull osteosclerosis, and hearing loss, in addition to the typical features described above.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1641736">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1770070"><div><strong>Autosomal recessive Robinow syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1770070</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5399974</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">ROR2-related Robinow syndrome is characterized by distinctive craniofacial features, skeletal abnormalities, and other anomalies. Craniofacial features include macrocephaly, broad prominent forehead, low-set ears, ocular hypertelorism, prominent eyes, midface hypoplasia, short upturned nose with depressed nasal bridge and flared nostrils, large and triangular mouth with exposed incisors and upper gums, gum hypertrophy, misaligned teeth, ankyloglossia, and micrognathia. Skeletal abnormalities include short stature, mesomelic or acromesomelic limb shortening, hemivertebrae with fusion of thoracic vertebrae, and brachydactyly. Other common features include micropenis with or without cryptorchidism in males and reduced clitoral size and hypoplasia of the labia majora in females, renal tract abnormalities, and nail hypoplasia or dystrophy. The disorder is recognizable at birth or in early childhood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1770070">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794181"><div><strong>Congenital disorder of glycosylation, type 2v</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794181</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5561971</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital disorder of glycosylation type 2v (CDG2V) is an autosomal recessive disorder characterized by neurodevelopmental delay and variable facial dysmorphisms (Polla et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794181">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841210"><div><strong>Spastic paraplegia 90A, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841210</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5830574</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal dominant spastic paraplegia-90A (SPG90A) is characterized by motor impairment and progressive lower extremity spasticity as well as neurologic findings, cognitive impairment, and hearing loss (Srivastava et al., 2023). For a discussion of genetic heterogeneity of autosomal dominant SPG, see SPG3A (182600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841210">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1641736" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant Robinow syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1770070" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive Robinow syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_2562" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Beckwith-Wiedemann syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_208678" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bohring-Opitz syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794181" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital disorder of glycosylation, type 2v</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (13)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_339902" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cornelia de Lange syndrome 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_113103" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diastrophic dysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419699" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial multiple nevi flammei</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_344278" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frontoocular syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863578" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, autosomal dominant 29</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_99347" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mulibrey nanism syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816342" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rienhoff syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841210" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic paraplegia 90A, autosomal dominant</a></div></span></div></div>
|
||
</div>
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|
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<div class="portlet mgSection" id="ID_105">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
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||
<div class="nl"><a target="_blank" href="/pubmed/39389653">Sturge-Weber syndrome: an overview of history, genetics, clinical manifestations, and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ramirez EL,
|
||
Jülich K</span><br />
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<span class="medgenPMjournal">Semin Pediatr Neurol</span>
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2024 Oct;51:101151.
|
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Epub 2024 Sep 7
|
||
doi: 10.1016/j.spen.2024.101151.
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||
<span class="bold">PMID: </span><a href="/pubmed/39389653" target="_blank">39389653</a></div>
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||
|
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<div class="nl"><a target="_blank" href="/pubmed/36098675">S2k guideline: Laser therapy of the skin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paasch U,
|
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Zidane M,
|
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Baron JM,
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Bund T,
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Cappius HJ,
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Drosner M,
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Feise K,
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Fischer T,
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Gauglitz G,
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Gerber PA,
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Grunewald S,
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Herberger K,
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Jung A,
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Karsai S,
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Kautz G,
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Philipp C,
|
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Schädel D,
|
||
Seitz AT,
|
||
Nast A</span><br />
|
||
<span class="medgenPMjournal">J Dtsch Dermatol Ges</span>
|
||
2022 Sep;20(9):1248-1267.
|
||
Epub 2022 Sep 13
|
||
doi: 10.1111/ddg.14879.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36098675" target="_blank">36098675</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28064423">Pathophysiology, diagnosis, and management of glaucoma associated with Sturge-Weber syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Javaid U,
|
||
Ali MH,
|
||
Jamal S,
|
||
Butt NH</span><br />
|
||
<span class="medgenPMjournal">Int Ophthalmol</span>
|
||
2018 Feb;38(1):409-416.
|
||
Epub 2017 Jan 7
|
||
doi: 10.1007/s10792-016-0412-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28064423" target="_blank">28064423</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22nevus%20flammeus%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (10)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39389653">Sturge-Weber syndrome: an overview of history, genetics, clinical manifestations, and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ramirez EL,
|
||
Jülich K</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Neurol</span>
|
||
2024 Oct;51:101151.
|
||
Epub 2024 Sep 7
|
||
doi: 10.1016/j.spen.2024.101151.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39389653" target="_blank">39389653</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38574211">Newborn Skin: Part II. Birthmarks.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Snyder KAM,
|
||
Voelckers AD</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2024 Mar;109(3):217-221.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38574211" target="_blank">38574211</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33238702">Therapeutic effects of 595-nm pulsed dye laser on children's nevus flammeus and incidence of adverse reactions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yuan Z,
|
||
Li Y</span><br />
|
||
<span class="medgenPMjournal">Panminerva Med</span>
|
||
2021 Sep;63(3):400-401.
|
||
Epub 2020 Nov 26
|
||
doi: 10.23736/S0031-0808.20.04184-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33238702" target="_blank">33238702</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28494824">Beckwith-Wiedemann Syndrome Review: A Guide for the Neonatal Nurse.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zammit M,
|
||
Caruana E,
|
||
Cassar D,
|
||
Calleja-Agius J</span><br />
|
||
<span class="medgenPMjournal">Neonatal Netw</span>
|
||
2017 May 1;36(3):129-133.
|
||
doi: 10.1891/0730-0832.36.3.129.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28494824" target="_blank">28494824</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16286742">The association between nuchal nevus flammeus and alopecia areata: a case-control study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Akhyani M,
|
||
Farnaghi F,
|
||
Seirafi H,
|
||
Nazari R,
|
||
Mansoori P,
|
||
Taheri A</span><br />
|
||
<span class="medgenPMjournal">Dermatology</span>
|
||
2005;211(4):334-7.
|
||
doi: 10.1159/000088503.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16286742" target="_blank">16286742</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Nevus%20flammeus%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (36)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38574211">Newborn Skin: Part II. Birthmarks.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Snyder KAM,
|
||
Voelckers AD</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2024 Mar;109(3):217-221.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38574211" target="_blank">38574211</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36720641">Teaching NeuroImage: Nevus Flammeus, Ocular Melanosis, and Seizures in Young Adult With Sturge-Weber and Klippel-Trenaunay Overlap Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lavanya K,
|
||
Ramesh R,
|
||
Shanmugam S,
|
||
Avadhani D,
|
||
Hazeena P</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2023 May 16;100(20):984-985.
|
||
Epub 2023 Jan 31
|
||
doi: 10.1212/WNL.0000000000206901.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36720641" target="_blank">36720641</a><a href="/pmc/articles/PMC10186233" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28494824">Beckwith-Wiedemann Syndrome Review: A Guide for the Neonatal Nurse.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zammit M,
|
||
Caruana E,
|
||
Cassar D,
|
||
Calleja-Agius J</span><br />
|
||
<span class="medgenPMjournal">Neonatal Netw</span>
|
||
2017 May 1;36(3):129-133.
|
||
doi: 10.1891/0730-0832.36.3.129.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28494824" target="_blank">28494824</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8919522">Phakomatosis pigmentovascularis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Van Gysel D,
|
||
Oranje AP,
|
||
Stroink H,
|
||
Simonsz HJ</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
1996 Jan-Feb;13(1):33-5.
|
||
doi: 10.1111/j.1525-1470.1996.tb01184.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8919522" target="_blank">8919522</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3328186">The Sturge-Weber syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paller AS</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
1987 Dec;4(4):300-4.
|
||
doi: 10.1111/j.1525-1470.1987.tb00797.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3328186" target="_blank">3328186</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Nevus%20flammeus%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (83)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33238702">Therapeutic effects of 595-nm pulsed dye laser on children's nevus flammeus and incidence of adverse reactions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yuan Z,
|
||
Li Y</span><br />
|
||
<span class="medgenPMjournal">Panminerva Med</span>
|
||
2021 Sep;63(3):400-401.
|
||
Epub 2020 Nov 26
|
||
doi: 10.23736/S0031-0808.20.04184-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33238702" target="_blank">33238702</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30344159">Generalised nevus flammeus, episcleral capillary malformation and glaucoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Takkar B,
|
||
Saxena H,
|
||
Sharma B,
|
||
Rathi A</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2018 Oct 21;2018
|
||
doi: 10.1136/bcr-2018-227248.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30344159" target="_blank">30344159</a><a href="/pmc/articles/PMC6203074" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22515585">Concurrence of linear epidermal nevus and nevus flammeus in a man with optic pathway glioma: coincidence or phacomatosis?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seifert F,
|
||
Jäger T,
|
||
Ring J,
|
||
Chen W</span><br />
|
||
<span class="medgenPMjournal">Int J Dermatol</span>
|
||
2012 May;51(5):592-3.
|
||
doi: 10.1111/j.1365-4632.2011.05034.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22515585" target="_blank">22515585</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7777664">Acquired nevus flammeus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Torres JE,
|
||
Sánchez JL</span><br />
|
||
<span class="medgenPMjournal">P R Health Sci J</span>
|
||
1995 Mar;14(1):21-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7777664" target="_blank">7777664</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18207756">Radiodermatitis following radium therapy for nevus flammeus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">CIPOLLARO AC</span><br />
|
||
<span class="medgenPMjournal">Arch Derm Syphilol</span>
|
||
1948 Mar;57(3 Pt. 2):517.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18207756" target="_blank">18207756</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Nevus%20flammeus%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (19)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33238702">Therapeutic effects of 595-nm pulsed dye laser on children's nevus flammeus and incidence of adverse reactions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yuan Z,
|
||
Li Y</span><br />
|
||
<span class="medgenPMjournal">Panminerva Med</span>
|
||
2021 Sep;63(3):400-401.
|
||
Epub 2020 Nov 26
|
||
doi: 10.23736/S0031-0808.20.04184-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33238702" target="_blank">33238702</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31261057">Microcephalic Newborn with Forehead Nevus Flammeus, Bulging Eyes, and Clenched Fists.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sharma M,
|
||
Hu X,
|
||
Geddes GC,
|
||
Acharya K</span><br />
|
||
<span class="medgenPMjournal">Neoreviews</span>
|
||
2019 Mar;20(3):e170-e173.
|
||
doi: 10.1542/neo.20-3-e170.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31261057" target="_blank">31261057</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28494824">Beckwith-Wiedemann Syndrome Review: A Guide for the Neonatal Nurse.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zammit M,
|
||
Caruana E,
|
||
Cassar D,
|
||
Calleja-Agius J</span><br />
|
||
<span class="medgenPMjournal">Neonatal Netw</span>
|
||
2017 May 1;36(3):129-133.
|
||
doi: 10.1891/0730-0832.36.3.129.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28494824" target="_blank">28494824</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25861997">The clinical course of an overgrowth syndrome, from diagnosis in infancy through adulthood: the case of Beckwith-Wiedemann syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pappas JG</span><br />
|
||
<span class="medgenPMjournal">Curr Probl Pediatr Adolesc Health Care</span>
|
||
2015 Apr;45(4):112-7.
|
||
Epub 2015 Apr 7
|
||
doi: 10.1016/j.cppeds.2015.03.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25861997" target="_blank">25861997</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24568872">Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Semerci CN,
|
||
Kalay E,
|
||
Yıldırım C,
|
||
Dinçer T,
|
||
Olmez A,
|
||
Toraman B,
|
||
Koçyiğit A,
|
||
Bulgu Y,
|
||
Okur V,
|
||
Satıroğlu-Tufan L,
|
||
Akarsu NA</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2014 Jun;98(6):832-40.
|
||
Epub 2014 Feb 25
|
||
doi: 10.1136/bjophthalmol-2013-304058.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24568872" target="_blank">24568872</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Nevus%20flammeus%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (25)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38574211">Newborn Skin: Part II. Birthmarks.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Snyder KAM,
|
||
Voelckers AD</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2024 Mar;109(3):217-221.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38574211" target="_blank">38574211</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35699517">Clinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yilmaz Gulec E,
|
||
Turgut GT,
|
||
Gezdirici A,
|
||
Karaman V,
|
||
Ozturk FN,
|
||
Avci S,
|
||
Kalayci T,
|
||
Senturk L,
|
||
Ayaz A,
|
||
Kayserili H,
|
||
Uyguner ZO,
|
||
Altunoğlu U</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2022 Sep;102(3):201-217.
|
||
Epub 2022 Jul 12
|
||
doi: 10.1111/cge.14177.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35699517" target="_blank">35699517</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25898929">(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mussa A,
|
||
Russo S,
|
||
De Crescenzo A,
|
||
Freschi A,
|
||
Calzari L,
|
||
Maitz S,
|
||
Macchiaiolo M,
|
||
Molinatto C,
|
||
Baldassarre G,
|
||
Mariani M,
|
||
Tarani L,
|
||
Bedeschi MF,
|
||
Milani D,
|
||
Melis D,
|
||
Bartuli A,
|
||
Cubellis MV,
|
||
Selicorni A,
|
||
Cirillo Silengo M,
|
||
Larizza L,
|
||
Riccio A,
|
||
Ferrero GB</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2016 Feb;24(2):183-90.
|
||
Epub 2015 Apr 22
|
||
doi: 10.1038/ejhg.2015.88.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25898929" target="_blank">25898929</a><a href="/pmc/articles/PMC4717210" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24568872">Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Semerci CN,
|
||
Kalay E,
|
||
Yıldırım C,
|
||
Dinçer T,
|
||
Olmez A,
|
||
Toraman B,
|
||
Koçyiğit A,
|
||
Bulgu Y,
|
||
Okur V,
|
||
Satıroğlu-Tufan L,
|
||
Akarsu NA</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2014 Jun;98(6):832-40.
|
||
Epub 2014 Feb 25
|
||
doi: 10.1136/bjophthalmol-2013-304058.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24568872" target="_blank">24568872</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17341861">Inverse Klippel-Trenaunay syndrome: review of cases showing deficient growth.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Danarti R,
|
||
König A,
|
||
Bittar M,
|
||
Happle R</span><br />
|
||
<span class="medgenPMjournal">Dermatology</span>
|
||
2007;214(2):130-2.
|
||
doi: 10.1159/000098571.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17341861" target="_blank">17341861</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Nevus%20flammeus%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (24)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/37431532">Pulsed dye laser and adjuvant topical therapies for the treatment of port-wine stains: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chou M,
|
||
Karim M,
|
||
Josephs J,
|
||
Itzkowitz T,
|
||
Dreker MR,
|
||
Labadie JG</span><br />
|
||
<span class="medgenPMjournal">Lasers Surg Med</span>
|
||
2024 Jan;56(1):39-44.
|
||
Epub 2023 Jul 11
|
||
doi: 10.1002/lsm.23706.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37431532" target="_blank">37431532</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28064423">Pathophysiology, diagnosis, and management of glaucoma associated with Sturge-Weber syndrome.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Javaid U,
|
||
Ali MH,
|
||
Jamal S,
|
||
Butt NH</span><br />
|
||
<span class="medgenPMjournal">Int Ophthalmol</span>
|
||
2018 Feb;38(1):409-416.
|
||
Epub 2017 Jan 7
|
||
doi: 10.1007/s10792-016-0412-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28064423" target="_blank">28064423</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Nevus%20flammeus%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div></div>
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